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DNA 修复基因(XRCC1、XRCC2、XRCC3)中的单核苷酸多态性及其与头颈部癌症患者放疗毒性的关系:来自马哈拉施特拉邦西南部的研究。

Single Nucleotide Polymorphisms in DNA Repair Genes (XRCC1, XRCC2, XRCC3) and Their Association with Radiotherapy Toxicity among Head and Neck Cancer Patients:A Study from South-Western Maharashtra.

机构信息

Department of Oncology, Krishna Vishwa Vidyapeeth "Deemed to be University", Taluka-Karad, Dist- Satara, Pin-415 539, (Maharashtra) India.

Department of Molecular Biology & Genetics, Krishna Vishwa Vidyapeeth "Deemed to be University", Taluka-Karad, Dist- Satara, Pin-415 539, (Maharashtra) India.

出版信息

Asian Pac J Cancer Prev. 2023 Sep 1;24(9):3049-3057. doi: 10.31557/APJCP.2023.24.9.3049.

DOI:10.31557/APJCP.2023.24.9.3049
PMID:37774056
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10762732/
Abstract

BACKGROUND

The genetic polymorphisms in DNA repair genes and their correlation with normal tissue toxicity in response to radiation therapy has not been consistently proven in many of the studies done in head and neck cancers (HNC). This study was intended to investigate the association of most common single nucleotide polymorphisms of DNA repair genes with acute radiation induced toxicities such as skin reactions and oral mucositis in normal tissue from HNC patients receiving radiotherapy from South-Western Maharashtra.

METHODS

Two hundred HNC patients receiving radiotherapy were enrolled in this study and the radiation injuries in the form of skin reactions and oral mucositis were recorded. Three single nucleotide polymorphisms (SNPs) rs1799782, rs25489) rs25487 of XRCC1 gene, rs3218536in XRCC2 gene and rs861539 SNP of XRCC3 gene were studied by PCR-RFLP and direct DNA sequencing.  Results: The univariate analysis of SNPs of XRCC1, XRCC2 and XRCC3, the obtained results verified that XRCC1 polymorphism at 194Trp of exon 6 (OR=0.69, 95% CI: 0.28-1.71; p=0.433), codon 280 at exon 9 ((OR=1.05, 95% CI: 0.42-2.63; p=0.911) and codon 399 of at exon 10(OR=1.06, 95% CI: 0.52-2.15; p=0.867) and XRCC2 polymorphism at codon 188 at exon 3 (OR=1.07, 95% CI: 0.46-2.47; p=0.866) and 241Met variant genotype of XRCC3 (OR=2.63 95% CI: 0.42-16.30; p=0.298) showed no association with degree of radiotherapy associated dermatitis or mucositis in HNC patients.

CONCLUSION

The findings from this study postulated that none of rs1799782, rs25489, rs25487 SNPs of XRCC1, rs3218536 SNP of XRCC2 nor rs861539 SNP of XRCC3 were associated with increased toxicity of radiotherapy in HNC patients of south-western Maharashtra. 
.

摘要

背景

在许多头颈部癌症(HNC)的研究中,DNA 修复基因的遗传多态性及其与放射治疗后正常组织毒性的相关性尚未得到一致证实。本研究旨在探讨 DNA 修复基因中最常见的单核苷酸多态性与接受来自西南马哈拉施特拉邦放射治疗的 HNC 患者正常组织中急性放射诱导毒性(如皮肤反应和口腔粘膜炎)之间的关联。
方法:本研究纳入了 200 名接受放射治疗的 HNC 患者,并记录了放射损伤的形式,即皮肤反应和口腔粘膜炎。研究了 XRCC1 基因的三个单核苷酸多态性(SNP)rs1799782、rs25489、rs25487,XRCC2 基因的 rs3218536 以及 XRCC3 基因的 rs861539 SNP,采用 PCR-RFLP 和直接 DNA 测序法进行分析。
结果:对 XRCC1、XRCC2 和 XRCC3 的 SNP 的单变量分析,结果验证 XRCC1 外显子 6 194Trp 多态性(OR=0.69,95%CI:0.28-1.71;p=0.433)、外显子 9 280 密码子多态性(OR=1.05,95%CI:0.42-2.63;p=0.911)和外显子 10 399 密码子多态性(OR=1.06,95%CI:0.52-2.15;p=0.867)和 XRCC2 外显子 3 188 密码子多态性(OR=1.07,95%CI:0.46-2.47;p=0.866)以及 XRCC3 241Met 变体基因型(OR=2.63 95%CI:0.42-16.30;p=0.298)与 HNC 患者放射治疗相关皮炎或粘膜炎的严重程度无相关性。
结论:本研究的结果表明,在西南马哈拉施特拉邦的 HNC 患者中,rs1799782、rs25489、rs25487 位点的 XRCC1、rs3218536 位点的 XRCC2 或 rs861539 位点的 XRCC3 与放射治疗的毒性增加均无相关性。

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